What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies

Trégouët, David‐Alexandre; Morange, Pierre‐Emmanuel

doi:10.1111/bjh.15004

Cited by 37 publications

(41 citation statements)

References 104 publications

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“…Two VTE associated loci, TSPAN15 and SLC44A2, increase also slightly the odds ratio for VTE (1.31 for TSPAN15 and 1.21 for SLC44A2, respectively) [32]. A comprehensive review about the genetics of VTE describing the allele prevalence and influence on VTE of various genetic variances was recently published [33]. The ThromboGenomics group in the United Kingdom using next generation sequencing and a high-throughput screening panel for genetic analysis of patients with coagulation, platelet or thrombotic disorders was able to identify a genetic diagnosis in 48.9% of patients with thrombotic disease [34].…”

Section: Inherited Thrombophiliamentioning

confidence: 99%

Thrombophilia screening revisited: an issue of personalized medicine

Colucci

Tsakiris

2020

J Thromb Thrombolysis

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Clinical thrombophilia is the consequence of multiple gene and/or environment interactions. Thrombophilia screening requires a targeted patient with specific indication, in which a finding would have implications. Carrying out a thrombophilia examination in the physician's practice is often a cause of uncertainty and concern. The concerns begin in choosing the right patient to be examined, are associated with the time of investigation, with the choice of analysis, the test-material and with the correct interpretation of the results. Difficulties, which can influence the results, can occur with both organization and blood sampling. As common for any analysis, pre-analytical, analytical and post-analytical factors should be considered, as well as the possibility of false positive or false negative results. Finally, recommendation of correct therapeutic and prophylactic measures for the patient and his relatives is an additional focus. In this article we want to provide-on the basis of the evidence and personal experience-the theory of thrombophilia-investigation, the indications for testing, as well as practical recommendations for treatment options. Keywords Venous thromboembolism • Thrombophilia screening • Genetic thrombophilia Highlights • Thrombophilia screening should be a global, comprehensive, personalized evaluation of the patient's prothrombotic state. • Global thrombophilia evaluation is indicated in all patients with thromboembolism, whereas thrombophiliaspecific laboratory screening only in selected cases. • Thrombophilia investigation should not be performed just for defining the duration of anticoagulation, but it helps in estimating the individual recurrence risk for throm-botic disease, the need for thrombotic prophylaxis or for the decision to prolong anticoagulation therapy. • Genetic causes of thrombophilia are significant risk factors for a first thromboembolic event but they do not influence decisively recurrent thrombotic risk. • Although single genetic thrombophilia is mostly kept in balance in children and young adults, it can cause serious thrombotic disease in adults, as soon as acquired risk factors are additionally prevalent (gene-environment interaction) or if multiple deviations in thrombophilia genes co-exist (gene-gene interaction). Dedicato a mio padre Vincenzo, esempio perenne di onestà e bontà umana (06.02.1944-22.03.2020).

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Section: Inherited Thrombophiliamentioning

confidence: 99%

Thrombophilia screening revisited: an issue of personalized medicine

Colucci

Tsakiris

2020

J Thromb Thrombolysis

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“…Despite the discovery of a region of interest on chromosome 3, no genes related to VT in previous GWAS studies were identified here . Are the SNPs identified in humans found in mice?…”

Section: The Questions Remainingmentioning

confidence: 81%

“…Some genetic variants that contribute to the risk have been identified in candidate genes, such as the factor V Leiden mutation. Other susceptibility single‐nucleotide polymorphisms (SNPs) have been identified in unsuspected genes, such as SLC44A2 or TSPAN15 , through high‐throughput genotyping strategies, mostly in genome‐wide association studies (GWASs) . However, even though those approaches have been successful in identifying new genes, much remains to be done to identify the missing heritability of VT, as known genetic variants explain only 5% of the heritability component.…”

mentioning

confidence: 99%

The missing heritability of venous thrombosis: what about factor V Leiden heterogeneity?

Fautrad

Thomas

Morange

2018

Journal of Thrombosis and Haemostasis

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“…The field of exercise genomics is still in its early stages and characterized by underpowered and heterogeneous studies awaiting replication . Although we currently are not aware of any genetic variants related to CRF that have been identified in genome‐wide association studies of VTE, future adequately powered studies may investigate a potential causal association between CRF and VTE using a Mendelian randomization design …”

Section: Discussionmentioning

confidence: 99%

Cardiorespiratory fitness and future risk of venous thromboembolism

Evensen

Isaksen

Brækkan

et al. 2019

Journal of Thrombosis and Haemostasis

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Background Cardiorespiratory fitness (CRF) is a strong predictor of future arterial cardiovascular disease and premature mortality. However, there are limited data on the association between CRF and the risk of incident venous thromboembolism (VTE). Objectives To investigate whether estimated CRF (eCRF) was associated with the risk of incident VTE in a cohort recruited from the general population. Methods Participants (n = 10 393) from the sixth survey of the Tromsø Study (2007—08) were included, and incident VTEs were recorded up to 31 December 2016. CRF was estimated in sex‐specific algorithms based on age, waist circumference, resting heart rate, and self‐reported physical activity. Hazard ratios (HRs) with 95% confidence intervals (CIs) of VTE according to categories of eCRF were estimated in Cox regression models adjusted for sex with age as timescale. The impact of weight status was evaluated in analyses stratified by weight category. Results There were 176 incident VTEs during follow‐up. Compared with individuals with eCRF < 85% of age‐predicted, those with eCRF of 85% to 100% and >100% of age‐predicted had 46% (HR 0.54; 95% CI 0.39‐0.77) and 67% (HR 0.33; 95% CI 0.20‐0.54) lower VTE risk, respectively. Compared with overweight/obese individuals with eCRF < 85% of age‐predicted, overweight/obese individuals with eCRF ≥ 85% had 50% (HR 0.50, 95% CI 0.35‐0.74) lower risk, and normal weight individuals with eCRF ≥ 85% had 55% (HR 0.45, 95% CI 0.30‐0.68) lower risk. Conclusions Higher eCRF was associated with lower risk of incident VTE. The association was independent of weight categories, suggesting that higher eCRF may modify the association between obesity and VTE.

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What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies

Cited by 37 publications

References 104 publications

Thrombophilia screening revisited: an issue of personalized medicine

Thrombophilia screening revisited: an issue of personalized medicine

The missing heritability of venous thrombosis: what about factor V Leiden heterogeneity?

Cardiorespiratory fitness and future risk of venous thromboembolism

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